Mutagenetix > Incidental Mutation

Incidental Mutation 'R4719:Senp1'

354327

Institutional Source

Beutler Lab

Gene Symbol

Senp1

Ensembl Gene

ENSMUSG00000033075

Gene Name

SUMO1/sentrin specific peptidase 1

Synonyms

D15Ertd528e, E330036L07Rik, 2310046A20Rik

MMRRC Submission

041957-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4719 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97936625-97991625 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97954731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 484 (H484Q)

Ref Sequence

ENSEMBL: ENSMUSP00000138056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044189] [ENSMUST00000180657] [ENSMUST00000180716]

AlphaFold

P59110

Predicted Effect

probably benign
Transcript: ENSMUST00000044189
AA Change: H458Q

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000046598
Gene: ENSMUSG00000033075
AA Change: H458Q

Domain	Start	End	E-Value	Type
low complexity region	38	47	N/A	INTRINSIC
low complexity region	183	192	N/A	INTRINSIC
low complexity region	223	235	N/A	INTRINSIC
low complexity region	246	261	N/A	INTRINSIC
low complexity region	357	375	N/A	INTRINSIC
Pfam:Peptidase_C48	460	638	1.3e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180657
AA Change: H484Q

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138056
Gene: ENSMUSG00000033075
AA Change: H484Q

Domain	Start	End	E-Value	Type
low complexity region	38	47	N/A	INTRINSIC
low complexity region	183	192	N/A	INTRINSIC
low complexity region	223	235	N/A	INTRINSIC
low complexity region	246	261	N/A	INTRINSIC
low complexity region	383	401	N/A	INTRINSIC
Pfam:Peptidase_C48	486	664	2e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180716

SMART Domains

Protein: ENSMUSP00000138032
Gene: ENSMUSG00000033075

Domain	Start	End	E-Value	Type
low complexity region	38	47	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181855

Meta Mutation Damage Score

0.0664

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

99% (76/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cysteine protease that specifically targets members of the small ubiquitin-like modifier (SUMO) protein family. This protease regulates SUMO pathways by deconjugating sumoylated proteins. This protease also functions to process the precursor SUMO proteins into their mature form. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
PHENOTYPE: Homozygous mutant mice die before birth. Depending on the allele mice may exhibit placental labyrinth defects and widespread cell death or severe anemia and a defect in definitive erythropoiesis in the fetal liver. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,089,971 (GRCm39)	Y971C	probably damaging	Het
Actr5	T	A	2: 158,468,433 (GRCm39)	S188T	probably damaging	Het
Adamtsl4	A	G	3: 95,586,896 (GRCm39)		probably null	Het
Agbl2	A	G	2: 90,645,733 (GRCm39)	N822S	probably benign	Het
Ankdd1b	T	A	13: 96,554,255 (GRCm39)		probably benign	Het
Arhgef40	C	T	14: 52,242,395 (GRCm39)		probably benign	Het
Art5	A	G	7: 101,747,701 (GRCm39)		probably null	Het
Atpsckmt	T	G	15: 31,608,243 (GRCm39)	V98G	probably damaging	Het
Cacna1s	T	C	1: 136,046,390 (GRCm39)		probably benign	Het
Car9	G	A	4: 43,508,616 (GRCm39)	W42*	probably null	Het
Cdh20	T	C	1: 104,862,035 (GRCm39)	Y72H	probably damaging	Het
Ces1g	T	C	8: 94,043,718 (GRCm39)	D407G	possibly damaging	Het
Cngb3	T	A	4: 19,309,562 (GRCm39)	D73E	probably benign	Het
Col6a4	A	T	9: 105,945,451 (GRCm39)	F888I	probably damaging	Het
Dgat2	T	C	7: 98,807,504 (GRCm39)	D222G	probably benign	Het
Dscaml1	T	C	9: 45,583,993 (GRCm39)	M486T	probably benign	Het
Faim2	C	T	15: 99,425,460 (GRCm39)		probably null	Het
Fance	T	C	17: 28,537,293 (GRCm39)		probably benign	Het
Fancm	G	T	12: 65,168,480 (GRCm39)	M1614I	possibly damaging	Het
Fcrl5	A	T	3: 87,351,496 (GRCm39)	N248I	probably damaging	Het
Foxo3	G	A	10: 42,073,774 (GRCm39)	R29W	probably damaging	Het
Gabbr2	A	G	4: 46,718,797 (GRCm39)	Y74H	probably damaging	Het
Gatd1	A	C	7: 140,990,981 (GRCm39)	D55E	probably benign	Het
Gpr152	C	A	19: 4,193,223 (GRCm39)	Q255K	possibly damaging	Het
Havcr1	A	G	11: 46,643,268 (GRCm39)	T63A	probably benign	Het
Hltf	T	C	3: 20,118,865 (GRCm39)		probably null	Het
Ifit3b	A	T	19: 34,590,030 (GRCm39)	Q402L	probably damaging	Het
Ints3	A	G	3: 90,322,828 (GRCm39)	L134S	probably benign	Het
Kcna10	A	G	3: 107,102,217 (GRCm39)	T283A	probably benign	Het
Kmt2e	A	C	5: 23,697,313 (GRCm39)	R590S	probably damaging	Het
Lefty1	A	T	1: 180,765,277 (GRCm39)	N282Y	probably benign	Het
Loxl4	T	A	19: 42,596,030 (GRCm39)	Y141F	probably benign	Het
Lrrn2	T	C	1: 132,866,915 (GRCm39)	V660A	probably benign	Het
Lyst	T	C	13: 13,824,935 (GRCm39)	S1517P	probably benign	Het
Mcoln2	A	G	3: 145,881,468 (GRCm39)	H208R	probably benign	Het
Mdga2	C	T	12: 66,517,775 (GRCm39)		probably benign	Het
Mpp2	T	A	11: 101,955,259 (GRCm39)	E122V	possibly damaging	Het
Mrgprb5	T	C	7: 47,818,526 (GRCm39)	N70D	probably damaging	Het
Muc5ac	A	T	7: 141,343,500 (GRCm39)	E37D	possibly damaging	Het
Nbeal1	T	A	1: 60,274,722 (GRCm39)		probably null	Het
Ncoa6	T	C	2: 155,233,081 (GRCm39)		probably benign	Het
Nfib	C	A	4: 82,422,967 (GRCm39)		probably null	Het
Nostrin	G	T	2: 68,975,156 (GRCm39)	G24*	probably null	Het
Nudc	A	G	4: 133,260,576 (GRCm39)	Y293H	probably damaging	Het
Or51a42	T	A	7: 103,707,940 (GRCm39)	N290Y	probably damaging	Het
Pcmtd1	T	A	1: 7,225,325 (GRCm39)	Y41*	probably null	Het
Pigt	T	C	2: 164,343,544 (GRCm39)	L340P	probably damaging	Het
Pomgnt1	T	C	4: 116,012,972 (GRCm39)	Y420H	probably damaging	Het
Pramel6	C	T	2: 87,341,096 (GRCm39)	T476I	probably benign	Het
Ptprn2	T	A	12: 116,788,016 (GRCm39)	H118Q	possibly damaging	Het
Rasl10a	G	A	11: 5,008,517 (GRCm39)	S71N	probably benign	Het
Rnf213	A	G	11: 119,310,893 (GRCm39)	I804V	probably benign	Het
Rps4l-ps	T	C	7: 114,526,537 (GRCm39)		noncoding transcript	Het
Sash1	T	A	10: 8,605,477 (GRCm39)	H971L	probably benign	Het
Secisbp2	T	A	13: 51,806,768 (GRCm39)	F54L	possibly damaging	Het
Slc12a1	T	C	2: 124,995,913 (GRCm39)	I22T	possibly damaging	Het
Slc25a36	A	G	9: 96,972,172 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,140,731 (GRCm39)	S1443T	probably benign	Het
Sv2c	T	C	13: 96,123,319 (GRCm39)	T385A	probably benign	Het
Tas2r131	T	A	6: 132,933,936 (GRCm39)	H291L	probably damaging	Het
Thbs3	A	G	3: 89,124,147 (GRCm39)	D80G	probably damaging	Het
Tnxb	C	T	17: 34,908,394 (GRCm39)	S1349L	probably damaging	Het
Toporsl	A	G	4: 52,611,996 (GRCm39)	R630G	probably benign	Het
Vmn1r43	C	A	6: 89,846,837 (GRCm39)	M216I	probably benign	Het
Wdr17	T	A	8: 55,092,911 (GRCm39)	E1068D	probably benign	Het
Wnt10a	G	A	1: 74,842,762 (GRCm39)	V413I	probably damaging	Het
Zfp141	T	C	7: 42,126,111 (GRCm39)		probably null	Het
Zfp169	T	C	13: 48,643,634 (GRCm39)	I498V	probably benign	Het

Other mutations in Senp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00684:Senp1	APN	15	97,962,719 (GRCm39)	missense	probably damaging	1.00
IGL01431:Senp1	APN	15	97,980,144 (GRCm39)	missense	probably damaging	0.97
IGL02674:Senp1	APN	15	97,954,840 (GRCm39)	missense	probably damaging	0.99
IGL03289:Senp1	APN	15	97,982,926 (GRCm39)	missense	probably damaging	1.00
Calmate	UTSW	15	97,964,379 (GRCm39)	missense	probably benign	0.00
mustard	UTSW	15	97,946,152 (GRCm39)	missense	probably damaging	1.00
nitrogen	UTSW	15	97,964,412 (GRCm39)	missense	possibly damaging	0.61
Sinapis	UTSW	15	97,962,761 (GRCm39)	splice site	probably benign
PIT1430001:Senp1	UTSW	15	97,982,870 (GRCm39)	missense	probably damaging	1.00
R0026:Senp1	UTSW	15	97,974,549 (GRCm39)	missense	probably damaging	0.99
R0026:Senp1	UTSW	15	97,974,549 (GRCm39)	missense	probably damaging	0.99
R0125:Senp1	UTSW	15	97,946,112 (GRCm39)	missense	probably damaging	0.99
R0531:Senp1	UTSW	15	97,962,761 (GRCm39)	splice site	probably benign
R1389:Senp1	UTSW	15	97,973,734 (GRCm39)	missense	probably benign	0.03
R1396:Senp1	UTSW	15	97,974,435 (GRCm39)	missense	probably benign	0.01
R1786:Senp1	UTSW	15	97,973,848 (GRCm39)	missense	probably benign	0.00
R1999:Senp1	UTSW	15	97,956,196 (GRCm39)	missense	possibly damaging	0.61
R2045:Senp1	UTSW	15	97,957,825 (GRCm39)	missense	possibly damaging	0.57
R2130:Senp1	UTSW	15	97,973,848 (GRCm39)	missense	probably benign	0.00
R2132:Senp1	UTSW	15	97,973,848 (GRCm39)	missense	probably benign	0.00
R2133:Senp1	UTSW	15	97,973,848 (GRCm39)	missense	probably benign	0.00
R2150:Senp1	UTSW	15	97,956,196 (GRCm39)	missense	possibly damaging	0.61
R2327:Senp1	UTSW	15	97,980,165 (GRCm39)	missense	probably damaging	1.00
R3815:Senp1	UTSW	15	97,954,713 (GRCm39)	missense	probably damaging	1.00
R4766:Senp1	UTSW	15	97,943,777 (GRCm39)	missense	probably damaging	0.98
R4866:Senp1	UTSW	15	97,964,729 (GRCm39)	missense	possibly damaging	0.93
R5141:Senp1	UTSW	15	97,974,488 (GRCm39)	missense	probably benign	0.08
R5485:Senp1	UTSW	15	97,964,377 (GRCm39)	missense	probably benign	0.00
R5651:Senp1	UTSW	15	97,974,498 (GRCm39)	missense	probably benign
R5668:Senp1	UTSW	15	97,946,236 (GRCm39)	missense	probably damaging	1.00
R5729:Senp1	UTSW	15	97,964,412 (GRCm39)	missense	possibly damaging	0.61
R6041:Senp1	UTSW	15	97,956,097 (GRCm39)	missense	probably damaging	0.97
R6395:Senp1	UTSW	15	97,946,074 (GRCm39)	missense	probably damaging	1.00
R6521:Senp1	UTSW	15	97,946,152 (GRCm39)	missense	probably damaging	1.00
R7070:Senp1	UTSW	15	97,980,187 (GRCm39)	missense	possibly damaging	0.66
R7075:Senp1	UTSW	15	97,956,207 (GRCm39)	missense	probably benign	0.00
R7262:Senp1	UTSW	15	97,964,379 (GRCm39)	missense	probably benign	0.00
R7625:Senp1	UTSW	15	97,964,679 (GRCm39)	missense	probably benign	0.10
R8318:Senp1	UTSW	15	97,962,748 (GRCm39)	missense	probably damaging	1.00
R8368:Senp1	UTSW	15	97,943,255 (GRCm39)	missense	probably damaging	1.00
R8946:Senp1	UTSW	15	97,940,782 (GRCm39)	missense	probably damaging	0.96
R9373:Senp1	UTSW	15	97,964,435 (GRCm39)	missense	probably benign	0.00
R9650:Senp1	UTSW	15	97,946,248 (GRCm39)	missense	probably damaging	1.00
R9756:Senp1	UTSW	15	97,957,806 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- ATGGAAGCAGCAGTCTCGAC -3'
(R):5'- TAGTAGGCAGGTGACTCGTG -3'

Sequencing Primer
(F):5'- CAGCATAGAGGGACGACTGCC -3'
(R):5'- AGGTGACTCGTGCTGAACAC -3'

Posted On

2015-10-21